摘要
Abstract
Objective:To investigate the relationship between V617F mutation in JAK2 gene and clinical characteristics in patients with BCR-ABL-negative myeloproliferative neoplasms (MPN).Methods:Sixty-five patients with MPN,including 28 subjects with polycythemia vera (PV),30 subjects with essential thrombocythemia (ET) and 7 subjects with idiopathic myelofibrosis (IMF) were enrolled in this study.Bone marrow cell DNA was extracted from MPN patients,and V617F mutation in JAK2 gene was identified by allele specific PCR (AS-PCR).The correlation between V617F mutation and clinical characteristics such as peripheral blood cell count and incidence of thrombosis were analyzed.Results:Of the 65 patients,42 subjects harbored V617F mutation (64.62％).The positive rates of V617F mutation in PV and ET patients were 75.00％ (21 subjects) and 56.67％ (17 subjects),respectively.Four of the 7 patients with IMF were V617F mutation positive.For PV patients,the levels of white blood cell count and platelet count in V617F mutation carriers were significantly higher than that in non-carriers (P＜0.05).For ET patients,the levels of white blood cell count and hemoglobin in V617F mutation carriers were significantly higher than that in non-carriers (P＜0.05).For IMF patients,however,no significant differences were found between mutation carriers and non-carriers.The incidence of thrombosis in V617F mutation carriers was higher than that in non-carriers (P＜0.001).Conclusions:V617F mutation in JAK2 is a major molecular genetic marker for Chinese patients with BCR-ABL-negative myeloproliferative neoplasms.This mutation has impacts on clinical characteristics and can be used as a criterion for the diagnosis of BCR-ABL-negative myeloproliferative neoplasm.关键词
骨髓增殖性肿瘤/真性红细胞增多症/骨髓纤维化/特发性血小板增多症/突变,基因/JAK2V617F/血栓形成Key words
Myeloproliferative neoplasms / Polycythemia vera/ Myelofibrosis/ Essential thrombocythemia/Mutation, gene/ JAK2V617F/ Thrombosis分类
医药卫生
